Now showing items 1-20 of 23

• #### Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis ﻿

(2015-07-02)
Abstract Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the ...
• #### Annexin A1 expression in breast cancer: tumor subtypes and prognosis ﻿

(BioMed Central, 2015-06-25)
Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of ...
• #### Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-control study ﻿

(2010-12-31)
Abstract Introduction Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence ...
• #### Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry ﻿

(Springer, 2016-04-06)
Purpose Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. Methods We constructed a genetic ...
• #### BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. ﻿

(American Association for Cancer Research, 2017-06)
Breast cancer risks conferred by many germline missense variants in the $\textit{BRCA1}$ and $\textit{BRCA2}$ genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, ...
• #### Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 ﻿

(Nature Publishing Group, 2016)
We analysed 3872 common genetic variants across the ESR1 locus (encoding estrogen receptor–alpha) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, ...
• #### Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk ﻿

(Springer Berlin Heidelberg, 2014-12-09)
Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with ...
• #### Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms ﻿

(Oxford University Press, 2016-03-23)
A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays ...
• #### Common non-synonymous SNPs associated with breast cancer susceptibility: ﬁndings from the Breast Cancer Association Consortium ﻿

(Oxford University Press, 2014-07-04)
Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude ...
• #### Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation ﻿

(NPG, 2014-09-23)
GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping ...
• #### Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 ﻿

Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
• #### Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk ﻿

(Oxford Journals, 2014-11-06)
Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or ...
• #### Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer ﻿

(Wiley, 2016)
Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ...
• #### Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast-Ovarian Cancer Susceptibility Locus ﻿

(Nature Publishing Group, 2016)
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. We analyzed 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identified ...
• #### Genetic modifiers of CHEK2*1100delC-associated breast cancer risk ﻿

(Nature Publishing Group, 2016-10-06)
Purpose: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ...
• #### Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent ﻿

(Public Library of Science, 2016-08-23)
$\textbf{Background}$ Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal ...
• #### Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. ﻿

(NPG, 2015-03-09)
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
• #### Identification of four novel susceptibility loci for estrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome wide significant associations (P<5x10-8) with estrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer ...
• #### Identification of Novel Genetic Markers of Breast Cancer Survival ﻿

(Oxford Journals, 2015-04-18)
Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with ...
• #### An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression ﻿

(Oxford University Press, 2016-07-11)
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify ...